Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0973461
Disease: Dysphasia
Dysphasia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 63 4 0.100 None 0
CUI: C0239399
Disease: Short extremities
Short extremities 		phenotype Congenital Abnormality 38 10 0.100 None 0
CUI: C0239138
Disease: Hip joint varus deformity - observation
Hip joint varus deformity - observation 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding 49 2 0.100 None 0
CUI: C0239137
Disease: Coxa valga
Coxa valga 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding 68 5 0.100 None 0
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype Mental Disorders Finding 384 34 0.100 None 0
CUI: C1857011
Disease: Recurrent mandibular subluxations
Recurrent mandibular subluxations 		phenotype Finding 1 0.100 None 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		phenotype Musculoskeletal Diseases Sign or Symptom 163 14 0.100 None 0
CUI: C0151529
Disease: Prolonged bleeding time
Prolonged bleeding time 		phenotype Finding 39 3 0.100 None 0
CUI: C0151526
Disease: Premature Birth
Premature Birth 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 192 50 0.100 None 0
CUI: C0086437
Disease: Joint laxity
Joint laxity 		phenotype Musculoskeletal Diseases Pathologic Function 224 15 0.100 None 0
CUI: C1857012
Disease: Frontal open bite
Frontal open bite 		phenotype Stomatognathic Diseases Finding 1 0.100 None 0
CUI: C1857013
Disease: Gingival hyperkeratosis
Gingival hyperkeratosis 		disease Disease or Syndrome 1 0.100 None 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 0
CUI: C0241181
Disease: Fragile skin
Fragile skin 		phenotype Finding 26 5 0.100 None 0
CUI: C0035579
Disease: Rickets
Rickets 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 72 16 0.100 None 0
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		phenotype Finding 71 5 0.100 None 0
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.100 None 0
CUI: C0029453
Disease: Osteopenia
Osteopenia 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 845 61 0.100 None 0
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		phenotype Finding 50 11 0.100 None 0
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		phenotype Finding 105 3 0.100 None 0
CUI: C1849043
Disease: Soft, doughy skin
Soft, doughy skin 		phenotype Finding 11 4 0.100 None 0
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger 		phenotype Finding 41 1 0.100 None 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 235 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 417 30 0.100 None 0
CUI: C0581342
Disease: Redundant skin
Redundant skin 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Pathologic Function 48 2 0.100 None 0